AI-Powered Blood Test Enables Detection, Analysis and Profiling of Cancer Tumors

Mutational signatures are changes in DNA patterns caused by cancer’s effects on cells in the body. These signatures can provide valuable insights into the cancer, such as the potential causes behind its development and which therapies may be most effective. Currently, obtaining this information requires whole genome sequencing of a tissue biopsy from the cancer, which is then compared to the patient's matched normal DNA sample. A standard biopsy that involves removing tissue or cells is costly and time-consuming, and it can also be difficult to collect tissue biopsy samples, especially when the tumor is located in hard-to-reach areas.

Researchers at Peter MacCallum Cancer Centre (Victoria, Australia) have now developed a method that utilizes circulating tumor DNA (ctDNA) from a patient's blood to detect cancer-related DNA changes. Their innovative approach, known as MisMatchFinder, uses an algorithm to identify these changes through a simple blood test. This method, published in Nature Communications, offers the potential to make genome sequencing more accessible and efficient, enabling quicker, personalized treatment plans for cancer patients. Moreover, it could revolutionize cancer monitoring by tracking changes in the disease over time, eliminating the need for repeated biopsies.

“Excitingly, this new methodology will allow us to observe what is happening to the tumor over various time points,” said study co-author Dr. Dineika Chandrananda. “MisMatchFinder brings considerable advances to the clinic and holds the potential to provide new insights into the use of mutational signatures. We believe that this knowledge will help guide and inform clinical decisions to optimize research led cancer treatment strategies.”